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rs386833971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833971(C;T)
Make rs386833971(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position76995175
GeneCLN5
is asnp
is mentioned by
dbSNPrs386833971
ebirs386833971
HLIrs386833971
Exacrs386833971
Varsomers386833971
Maprs386833971
PheGenIrs386833971
hapmaprs386833971
1000 genomesrs386833971
hgdprs386833971
ensemblrs386833971
gopubmedrs386833971
geneviewrs386833971
scholarrs386833971
googlers386833971
pharmgkbrs386833971
gwascentralrs386833971
openSNPrs386833971
23andMers386833971
23andMe allrs386833971
SNP Nexus

SNPshotrs386833971
SNPdbers386833971
MSV3drs386833971
GWAS Ctlgrs386833971
Max Magnitude0
ClinVar
Risk rs386833971(T;T)
Alt rs386833971(T;T)
Reference rs386833971(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77569310C>T
CLNSRC ClinVar
CLNACC RCV000049947.2,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.